Canonical Allele Identifier: CA397102309

Gene: GALNS TRAPPC2L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856877T>C , CM000678.2:g.88856877T>C	GRCh38
NC_000016.9:g.88923285T>C , CM000678.1:g.88923285T>C	GRCh37
NC_000016.8:g.87450786T>C	NCBI36
NG_008667.1:g.5090A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1A>G (GALNS) MANE Select	NP_000503.1:p.Met1Val
ENST00000268695.10:c.1A>G (GALNS) MANE Select	ENSP00000268695.5:p.Met1Val
NM_000512.4:c.1A>G (GALNS)	NP_000503.1:p.Met1Val
NM_001323543.1:c.-431A>G (GALNS)	NP_001310472.1:n.-431A>G
NM_001323543.2:c.-431A>G (GALNS)	NP_001310472.1:n.-431A>G
NM_001323544.1:c.-152A>G (GALNS)	NP_001310473.1:n.-152A>G
NM_001323544.2:c.-152A>G (GALNS)	NP_001310473.1:n.-152A>G
NR_134671.1:n.27+631T>C (TRAPPC2L)
NR_134671.2:n.27+631T>C (TRAPPC2L)
ENST00000268695.9:c.1A>G (GALNS)	ENSP00000268695.5:p.Met1Val
ENST00000564365.5:c.-398+631T>C (TRAPPC2L)	ENSP00000455447.1:n.-398+631T>C
ENST00000568311.1:c.1A>G (GALNS)	ENSP00000455006.1:p.Met1Val
ENST00000569433.1:c.1A>G (GALNS)	ENSP00000456884.1:p.Met1Val
XM_005256301.2:c.1A>G (GALNS)	XP_005256358.1:p.Met1Val
XM_005256301.3:c.1A>G (GALNS)	XP_005256358.1:p.Met1Val
XM_017023113.1:c.-431A>G (GALNS)	XP_016878602.1:n.-431A>G